TMEM131L
gene geneOn this page
Also known as DKFZp586H1322
Summary
TMEM131L (transmembrane 131 like, HGNC:29146) is a protein-coding gene on chromosome 4q31.3, encoding Transmembrane protein 131-like (A2VDJ0). Membrane-associated form that antagonizes canonical Wnt signaling by triggering lysosome-dependent degradation of Wnt-activated LRP6.
Involved in negative regulation of canonical Wnt signaling pathway and negative regulation of immature T cell proliferation in thymus. Located in cytoplasm and plasma membrane.
Source: NCBI Gene 23240 — RefSeq curated summary.
At a glance
- GWAS associations: 26
- Clinical variants (ClinVar): 277 total
- MANE Select transcript:
NM_001131007
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29146 |
| Approved symbol | TMEM131L |
| Name | transmembrane 131 like |
| Location | 4q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp586H1322 |
| Ensembl gene | ENSG00000121210 |
| Ensembl biotype | protein_coding |
| OMIM | 616243 |
| Entrez | 23240 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 23 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay
ENST00000240487, ENST00000409663, ENST00000409959, ENST00000445960, ENST00000462540, ENST00000478919, ENST00000497247, ENST00000509565, ENST00000886543, ENST00000886548, ENST00000886549, ENST00000886550, ENST00000886551, ENST00000886552, ENST00000939903, ENST00000939904, ENST00000939905, ENST00000939906, ENST00000939907, ENST00000939908, ENST00000939909, ENST00000939910, ENST00000939911, ENST00000939912, ENST00000971909, ENST00000971910, ENST00000971911, ENST00000971912
RefSeq mRNA: 2 — MANE Select: NM_001131007
NM_001131007, NM_015196
CCDS: CCDS3783, CCDS47148
Canonical transcript exons
ENST00000409959 — 35 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000740002 | 153620756 | 153620880 |
| ENSE00000740004 | 153612252 | 153612400 |
| ENSE00000740007 | 153603802 | 153604430 |
| ENSE00000740010 | 153603303 | 153603452 |
| ENSE00000821100 | 153621683 | 153621849 |
| ENSE00000821101 | 153622898 | 153623083 |
| ENSE00000821102 | 153626147 | 153626225 |
| ENSE00000821103 | 153627605 | 153627687 |
| ENSE00000821104 | 153632718 | 153632838 |
| ENSE00000821105 | 153634192 | 153634280 |
| ENSE00000821106 | 153635432 | 153635571 |
| ENSE00000927455 | 153586209 | 153586379 |
| ENSE00000927456 | 153587742 | 153587811 |
| ENSE00000927457 | 153588890 | 153589007 |
| ENSE00000927458 | 153591053 | 153591194 |
| ENSE00000927459 | 153592475 | 153592584 |
| ENSE00000927460 | 153593799 | 153593871 |
| ENSE00000927461 | 153596258 | 153596385 |
| ENSE00000927462 | 153598590 | 153598732 |
| ENSE00000927463 | 153602152 | 153602338 |
| ENSE00001334339 | 153583564 | 153583672 |
| ENSE00001334341 | 153583190 | 153583248 |
| ENSE00001334343 | 153581407 | 153581560 |
| ENSE00001334344 | 153580826 | 153580903 |
| ENSE00001334345 | 153558258 | 153558368 |
| ENSE00001588844 | 153636301 | 153636711 |
| ENSE00001713308 | 153467211 | 153467281 |
| ENSE00001765859 | 153473845 | 153473888 |
| ENSE00001922965 | 153466360 | 153466521 |
| ENSE00003466099 | 153585458 | 153585611 |
| ENSE00003473785 | 153584835 | 153584931 |
| ENSE00003525201 | 153556966 | 153557082 |
| ENSE00003544801 | 153555787 | 153555910 |
| ENSE00003571772 | 153602542 | 153602727 |
| ENSE00003589831 | 153550073 | 153550141 |
Expression profiles
Bgee: expression breadth ubiquitous, 236 present calls, max score 98.46.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.8315 / max 907.3634, expressed in 1783 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 50071 | 21.6936 | 1783 |
| 50072 | 0.1379 | 73 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 98.46 | gold quality |
| oocyte | CL:0000023 | 96.59 | gold quality |
| body of pancreas | UBERON:0001150 | 91.57 | gold quality |
| leukocyte | CL:0000738 | 91.43 | gold quality |
| monocyte | CL:0000576 | 91.37 | gold quality |
| granulocyte | CL:0000094 | 91.36 | gold quality |
| mononuclear cell | CL:0000842 | 91.34 | gold quality |
| bone marrow | UBERON:0002371 | 90.73 | gold quality |
| blood | UBERON:0000178 | 90.24 | gold quality |
| spleen | UBERON:0002106 | 89.71 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 89.63 | gold quality |
| lymph node | UBERON:0000029 | 89.53 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.41 | gold quality |
| vermiform appendix | UBERON:0001154 | 89.39 | gold quality |
| bone marrow cell | CL:0002092 | 89.30 | gold quality |
| popliteal artery | UBERON:0002250 | 89.15 | gold quality |
| tibial artery | UBERON:0007610 | 89.14 | gold quality |
| ventricular zone | UBERON:0003053 | 88.66 | gold quality |
| thymus | UBERON:0002370 | 88.37 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.53 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 86.47 | gold quality |
| tonsil | UBERON:0002372 | 86.37 | gold quality |
| pancreas | UBERON:0001264 | 85.99 | gold quality |
| blood vessel layer | UBERON:0004797 | 85.81 | gold quality |
| aorta | UBERON:0000947 | 85.67 | gold quality |
| right lobe of liver | UBERON:0001114 | 85.25 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.31 | gold quality |
| caecum | UBERON:0001153 | 84.30 | gold quality |
| muscle of leg | UBERON:0001383 | 84.23 | gold quality |
| superficial temporal artery | UBERON:0001614 | 84.16 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 16.14 |
| E-MTAB-9067 | yes | 13.36 |
| E-ANND-3 | yes | 13.19 |
| E-CURD-122 | yes | 6.32 |
| E-ENAD-17 | no | 775.02 |
| E-MTAB-8060 | no | 33.75 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ELK1, ETS1
miRNA regulators (miRDB)
21 targeting TMEM131L, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-628-3P | 99.04 | 68.37 | 814 |
| HSA-MIR-4704-5P | 96.13 | 68.67 | 608 |
| HSA-MIR-5092 | 93.86 | 62.63 | 151 |
Literature-anchored findings (GeneRIF, showing 2)
- these data indicate that, during thymopoiesis, stage-specific surface translocation of TMEM131L may regulate immature single-positive thymocyte proliferation arrest (PMID:23690469)
- These results show that TMEM131L corresponds to an evolutionary conserved regulator of the Notch signaling pathway. (PMID:28347816)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem131l | ENSDARG00000079434 |
| mus_musculus | Tmem131l | ENSMUSG00000033767 |
| rattus_norvegicus | Tmem131l | ENSRNOG00000009837 |
| drosophila_melanogaster | Tmem131 | FBGN0034060 |
| caenorhabditis_elegans | WBGENE00016170 |
Paralogs (1): TMEM131 (ENSG00000075568)
Protein
Protein identifiers
Transmembrane protein 131-like — A2VDJ0 (reviewed: A2VDJ0)
All UniProt accessions (3): A2VDJ0, F8WEQ2, H0Y2M0
UniProt curated annotations — full annotation on UniProt →
Function. Membrane-associated form that antagonizes canonical Wnt signaling by triggering lysosome-dependent degradation of Wnt-activated LRP6. Regulates thymocyte proliferation.
Subcellular location. Cell membrane. Cytoplasm Endoplasmic reticulum Cytoplasm.
Tissue specificity. Expressed in thymocytes.
Similarity. Belongs to the TMEM131 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A2VDJ0-1 | 1, L | yes |
| A2VDJ0-2 | 2 | |
| A2VDJ0-3 | 3 | |
| A2VDJ0-5 | 4 | |
| A2VDJ0-6 | 5, S |
RefSeq proteins (2): NP_001124479, NP_056011 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR022113 | TMEM131L_N | Domain |
| IPR039877 | TMEM131-like | Family |
| IPR045695 | TMEM131-like_Ig_dom2 | Domain |
| IPR055435 | Ig_TMEM131L_3 | Domain |
| IPR055436 | Ig_TMEM131L_4 | Domain |
| IPR055437 | TMEM131L_Ig_5 | Domain |
Pfam: PF12371, PF19532, PF24498, PF24499, PF24501
UniProt features (32 total): region of interest 6, glycosylation site 6, splice variant 5, sequence variant 5, compositionally biased region 3, topological domain 2, signal peptide 1, chain 1, modified residue 1, transmembrane region 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A2VDJ0-F1 | 53.30 | 0.08 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 1122
Glycosylation sites (6): 343, 439, 522, 593, 709, 846
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 258 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, E2F_Q4_01, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, BASSO_HAIRY_CELL_LEUKEMIA_DN, LFA1_Q6, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, TAL1ALPHAE47_01, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, SP1_Q2_01, PUJANA_CHEK2_PCC_NETWORK, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_CELL_CELL_ADHESION
GO Biological Process (3): Wnt signaling pathway (GO:0016055), negative regulation of immature T cell proliferation in thymus (GO:0033088), negative regulation of canonical Wnt signaling pathway (GO:0090090)
GO Molecular Function (0):
GO Cellular Component (4): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cell surface receptor signaling pathway | 1 |
| immature T cell proliferation in thymus | 1 |
| regulation of immature T cell proliferation in thymus | 1 |
| negative regulation of T cell differentiation in thymus | 1 |
| negative regulation of immature T cell proliferation | 1 |
| negative regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
424 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM131L | TMEM229B | Q8NBD8 | 666 |
| TMEM131L | TIGD4 | Q8IY51 | 572 |
| TMEM131L | SMIM14 | Q96QK8 | 540 |
| TMEM131L | COMMD8 | Q9NX08 | 526 |
| TMEM131L | RNF150 | Q9ULK6 | 517 |
| TMEM131L | OCIAD2 | Q56VL3 | 504 |
| TMEM131L | APBA2 | Q99767 | 498 |
| TMEM131L | ARFIP1 | P53367 | 492 |
| TMEM131L | C1orf21 | Q9H246 | 477 |
| TMEM131L | TMEM62 | Q0P6H9 | 468 |
| TMEM131L | LIAS | O43766 | 458 |
| TMEM131L | SYNPO2 | Q9UMS6 | 449 |
| TMEM131L | GON7 | Q9BXV9 | 446 |
| TMEM131L | ETFDH | Q16134 | 443 |
| TMEM131L | GABRB1 | P18505 | 439 |
IntAct
75 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| CSNK1D | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | psi-mi:“MI:0914”(association) | 0.350 | |
| HLA-DQB1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHA4 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| APOA2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| LRCH1 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| CGRRF1 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| BTNL8 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| TCTN2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| NLGN3 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS3 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNB2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| TENT5A | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| IL17RC | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| LRP3 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| PDE3A | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHB3 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2D | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| GP9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| APOM | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PIGH | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-DQB1 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM106A | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHA8 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC107 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-C | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-DPB1 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (130): KIAA0922 (Affinity Capture-MS), KIAA0922 (Affinity Capture-MS), KIAA0922 (Affinity Capture-MS), KIAA0922 (Affinity Capture-MS), KIAA0922 (Affinity Capture-MS), KIAA0922 (Affinity Capture-MS), KIAA0922 (Affinity Capture-MS), KIAA0922 (Affinity Capture-MS), KIAA0922 (Synthetic Lethality), KIAA0922 (Affinity Capture-MS), KIAA0922 (Affinity Capture-MS), KIAA0922 (Affinity Capture-MS), KIAA0922 (Affinity Capture-RNA), KIAA0922 (Affinity Capture-MS), KIAA0922 (Affinity Capture-MS)
ESM2 similar proteins: A2VDJ0, A5D791, A9CB18, D3YYM4, D5K8A9, E7FKV8, F1LW30, M0R2J8, O60383, O70173, O75747, Q07105, Q08DV9, Q2F7Z7, Q3MJ13, Q3SXY7, Q3T0Q2, Q3U3D7, Q3U3S3, Q4R8C8, Q5F479, Q5R800, Q5RFQ4, Q5SUS0, Q5XX13, Q6IRU7, Q6P4T1, Q6UXZ4, Q7TP65, Q8BLA1, Q8K1S2, Q8NDB2, Q8NEM2, Q8QHJ9, Q8R526, Q8TDX9, Q920I9, Q96KN7, Q9BXS4, Q9D0L6
Diamond homologs: A2VDJ0, Q08DV9, Q3U3D7, O70472, Q92545
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 77 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Translocation of ZAP-70 to Immunological synapse | 5 | 55.6× | 3e-06 |
| Phosphorylation of CD3 and TCR zeta chains | 5 | 47.7× | 3e-06 |
| Co-inhibition by PD-1 | 5 | 45.5× | 3e-06 |
| Generation of second messenger molecules | 5 | 30.4× | 2e-05 |
| Interferon gamma signaling | 7 | 15.4× | 1e-05 |
| R-HSA-425393 | 6 | 13.7× | 1e-04 |
| Downstream TCR signaling | 5 | 11.3× | 2e-03 |
| SLC-mediated transmembrane transport | 10 | 10.4× | 3e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| peptide antigen assembly with MHC class II protein complex | 5 | 77.4× | 2e-06 |
| sodium ion import across plasma membrane | 5 | 45.9× | 9e-06 |
| regulation of intracellular pH | 5 | 44.2× | 9e-06 |
| antigen processing and presentation of exogenous peptide antigen via MHC class II | 5 | 40.0× | 1e-05 |
| positive regulation of immune response | 5 | 35.4× | 2e-05 |
| positive regulation of T cell activation | 5 | 32.6× | 3e-05 |
| sodium ion transport | 5 | 20.0× | 3e-04 |
| T cell receptor signaling pathway | 8 | 17.9× | 3e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
277 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 235 |
| Likely benign | 16 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5492 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:153467197:T:TA | acceptor_gain | 1.0000 |
| 4:153467198:G:A | acceptor_gain | 1.0000 |
| 4:153467200:T:TA | acceptor_gain | 1.0000 |
| 4:153467206:T:A | acceptor_gain | 1.0000 |
| 4:153467206:TGCA:T | acceptor_loss | 1.0000 |
| 4:153467207:GCAGC:G | acceptor_loss | 1.0000 |
| 4:153467209:A:AG | acceptor_gain | 1.0000 |
| 4:153467209:AG:A | acceptor_loss | 1.0000 |
| 4:153467209:AGC:A | acceptor_gain | 1.0000 |
| 4:153467210:G:GA | acceptor_gain | 1.0000 |
| 4:153467210:GC:G | acceptor_gain | 1.0000 |
| 4:153467210:GCG:G | acceptor_gain | 1.0000 |
| 4:153467210:GCGA:G | acceptor_gain | 1.0000 |
| 4:153467210:GCGAT:G | acceptor_gain | 1.0000 |
| 4:153467280:AG:A | donor_loss | 1.0000 |
| 4:153467281:GG:G | donor_loss | 1.0000 |
| 4:153467283:T:G | donor_loss | 1.0000 |
| 4:153473886:GAG:G | donor_gain | 1.0000 |
| 4:153473889:GT:G | donor_loss | 1.0000 |
| 4:153473890:T:A | donor_loss | 1.0000 |
| 4:153550068:TTTA:T | acceptor_loss | 1.0000 |
| 4:153550069:TTAGC:T | acceptor_loss | 1.0000 |
| 4:153550070:TA:T | acceptor_loss | 1.0000 |
| 4:153550071:A:AG | acceptor_gain | 1.0000 |
| 4:153550071:AGCT:A | acceptor_loss | 1.0000 |
| 4:153550072:G:A | acceptor_loss | 1.0000 |
| 4:153550072:G:GA | acceptor_gain | 1.0000 |
| 4:153550072:GC:G | acceptor_gain | 1.0000 |
| 4:153550137:ATACA:A | donor_gain | 1.0000 |
| 4:153550138:TACA:T | donor_gain | 1.0000 |
AlphaMissense
10689 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:153598694:T:C | F742S | 1.000 |
| 4:153602274:T:C | F796L | 1.000 |
| 4:153602275:T:C | F796S | 1.000 |
| 4:153602276:C:A | F796L | 1.000 |
| 4:153602276:C:G | F796L | 1.000 |
| 4:153602544:T:C | F818S | 1.000 |
| 4:153602625:T:C | L845P | 1.000 |
| 4:153598693:T:C | F742L | 0.999 |
| 4:153598695:T:A | F742L | 0.999 |
| 4:153598695:T:G | F742L | 0.999 |
| 4:153602194:T:C | F769S | 0.999 |
| 4:153602200:T:A | V771D | 0.999 |
| 4:153602275:T:G | F796C | 0.999 |
| 4:153602335:T:A | I816N | 0.999 |
| 4:153602543:T:C | F818L | 0.999 |
| 4:153602545:C:A | F818L | 0.999 |
| 4:153602545:C:G | F818L | 0.999 |
| 4:153602569:G:C | W826C | 0.999 |
| 4:153602569:G:T | W826C | 0.999 |
| 4:153602583:T:C | L831P | 0.999 |
| 4:153602619:T:C | F843S | 0.999 |
| 4:153602625:T:A | L845H | 0.999 |
| 4:153602637:T:A | L849H | 0.999 |
| 4:153602637:T:C | L849P | 0.999 |
| 4:153602649:T:C | L853P | 0.999 |
| 4:153602652:T:C | L854S | 0.999 |
| 4:153602660:T:C | C857R | 0.999 |
| 4:153602661:G:A | C857Y | 0.999 |
| 4:153602662:T:G | C857W | 0.999 |
| 4:153598649:T:C | L727S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000032399 (4:153553990 A>G), RS1000038167 (4:153561391 A>G,T), RS1000046089 (4:153477588 G>A), RS1000071128 (4:153517269 C>A,T), RS1000071667 (4:153489704 C>G,T), RS10000932 (4:153599409 A>G), RS1000094204 (4:153523142 T>C), RS1000099680 (4:153613157 T>A), RS1000100313 (4:153482971 T>C), RS10001174 (4:153553113 T>A), RS1000129727 (4:153561357 T>C), RS10001304 (4:153539656 A>G), RS1000150344 (4:153534317 C>G,T), RS1000152569 (4:153483226 G>T), RS1000157873 (4:153522533 T>G)
Disease associations
OMIM: gene MIM:616243 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
26 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002001_4 | Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs) | 9.000000e-06 |
| GCST002927_11 | Mercury levels | 9.000000e-06 |
| GCST004599_95 | Mean platelet volume | 4.000000e-14 |
| GCST004611_119 | High light scatter reticulocyte count | 3.000000e-10 |
| GCST004612_66 | High light scatter reticulocyte percentage of red cells | 2.000000e-09 |
| GCST004616_4 | Platelet distribution width | 7.000000e-09 |
| GCST004619_198 | Reticulocyte fraction of red cells | 1.000000e-10 |
| GCST004622_170 | Reticulocyte count | 1.000000e-11 |
| GCST008368_12 | Plasma anti-thyroid peroxidase levels | 1.000000e-06 |
| GCST90002385_262 | High light scatter reticulocyte count | 5.000000e-18 |
| GCST90002386_9 | High light scatter reticulocyte percentage of red cells | 5.000000e-15 |
| GCST90002393_141 | Monocyte count | 4.000000e-11 |
| GCST90002395_658 | Mean platelet volume | 1.000000e-12 |
| GCST90002395_659 | Mean platelet volume | 7.000000e-27 |
| GCST90002396_243 | Mean reticulocyte volume | 1.000000e-25 |
| GCST90002397_27 | Mean spheric corpuscular volume | 6.000000e-18 |
| GCST90002397_28 | Mean spheric corpuscular volume | 2.000000e-14 |
| GCST90002400_674 | Plateletcrit | 6.000000e-09 |
| GCST90002400_675 | Plateletcrit | 2.000000e-11 |
| GCST90002401_155 | Platelet distribution width | 1.000000e-12 |
| GCST90002402_754 | Platelet count | 6.000000e-11 |
| GCST90002402_755 | Platelet count | 3.000000e-09 |
| GCST90002405_48 | Reticulocyte count | 1.000000e-20 |
| GCST90002405_49 | Reticulocyte count | 1.000000e-11 |
| GCST90002406_153 | Reticulocyte fraction of red cells | 5.000000e-17 |
| GCST90002406_154 | Reticulocyte fraction of red cells | 3.000000e-12 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005260 | response to antimicrotubule agent |
| EFO:0007986 | reticulocyte count |
| EFO:0007984 | platelet component distribution width |
| EFO:0005091 | monocyte count |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs117412990 | TMEM131L | 0.00 | 0 |
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression | 3 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| Nickel | increases expression | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects methylation | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 1-hydroxypyrene | affects cotreatment, increases methylation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Lead | affects expression | 1 |
| Melphalan | decreases expression | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Quercetin | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Dronabinol | increases expression | 1 |
| Thiram | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.